Genetics of schizophrenia in the South African Xhosa

Journal: Science

Published: 2020-01-31

DOI: 10.1126/science.aay8833

Affiliations: 10

Authors: 28

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Research Highlight

First African analysis of schizophrenia genetics

© Fotokia/Getty

© Fotokia/Getty

The first genomic analysis of schizophrenia in an African population has revealed many rare damaging genetic mutations, particularly in genes involved in synaptic function in the brain.

Most studies into schizophrenia, which involves extremely rare mutations in genes critical to synaptic plasticity, have been on people of European descent. There is thus a dearth of knowledge about the genetics of the disorder in Africa.

A team that included scientists from the University of Cape Town recruited more than 900 people with schizophrenia and a similar number of controls who didn’t have the disorder. All participants self-identified as Xhosa, a major ethnic group in southern Africa.

The researchers sequenced the protein-coding portion of the genome and, thanks to the large genetic diversity of the Xhosa people, identified several extremely rare variants linked to the disease.

Overall, however, the genetic architecture of schizophrenia reflected that observed previously in cohorts from Europe — thus validating scientists’ understanding of the disease in populations the world over.

Supported content

  1. Science 367, 569–573 (2020). doi: 10.1126/science.aay8833
Institutions Share
UCT Department of Psychiatry and Mental Health, South Africa 0.32
University of Washington School of Medicine (UWSOM), United States of America (USA) 0.18
UCT Division of Human Genetics, South Africa 0.11
Human Genome Sequencing Center (HGSC), BCM, United States of America (USA) 0.11
Mailman School of Public Health, CU, United States of America (USA) 0.09
New York State Psychiatric Institute (NYSPI), United States of America (USA) 0.05
Department of Psychology, UMN, United States of America (USA) 0.04
Department of Psychiatry, Penn, United States of America (USA) 0.04
Faculty of Humanities, RU, South Africa 0.04
Faculty of Health Sciences, WSU, South Africa 0.04